Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
128637
Gene name Gene Name - the full gene name approved by the HGNC.
TBC1 domain family member 20
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TBC1D20
Synonyms (NCBI Gene) Gene synonyms aliases
C20orf140, WARBM4
Disease Acronyms (UniProt) Disease acronyms from UniProt database
WARBM4
Chromosome Chromosome number
20
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
20p13
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a protein that belongs to a family of GTPase activator proteins of Rab-like small GTPases. The encoded protein and its cognate GTPase, Rab1, bind the nonstructural protein 5A (NS5A) of the hepatitis C virus (HCV) to mediate viral replica
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs141648576 C>T Conflicting-interpretations-of-pathogenicity Coding sequence variant, non coding transcript variant, synonymous variant
rs587777157 G>A Pathogenic Intron variant, coding sequence variant, non coding transcript variant, stop gained
rs587777158 G>A Pathogenic Coding sequence variant, non coding transcript variant, stop gained
rs587777159 GT>- Pathogenic Coding sequence variant, non coding transcript variant, frameshift variant
rs587777160 C>T Pathogenic Coding sequence variant, non coding transcript variant, stop gained
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT028089 hsa-miR-93-5p Sequencing 20371350
MIRT052174 hsa-let-7b-5p CLASH 23622248
MIRT038344 hsa-miR-296-3p CLASH 23622248
MIRT038344 hsa-miR-296-3p CLASH 23622248
MIRT726367 hsa-miR-15a-5p HITS-CLIP 22473208
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005096 Function GTPase activator activity IBA 21873635
GO:0005096 Function GTPase activator activity IDA 17684057
GO:0005515 Function Protein binding IPI 17684057, 17686842, 22491470, 32296183
GO:0005783 Component Endoplasmic reticulum IDA 22491470
GO:0005789 Component Endoplasmic reticulum membrane IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
611663 16133 ENSG00000125875
Protein
UniProt ID Q96BZ9
Protein name TBC1 domain family member 20
Protein function GTPase-activating protein (GAP) specific for Rab1 and Rab2 small GTPase families for which it can accelerate the intrinsic GTP hydrolysis rate by more than five orders of magnitude (PubMed:23236136). Also shows GAP activity for RAB18 GTPase (Pub
PDB 4HL4 , 4HLQ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00566 RabGAP-TBC 63 266 Rab-GTPase-TBC domain Family
Sequence
MALRSAQGDGPTSGHWDGGAEKADFNAKRKKKVAEIHQALNSDPTDVAALRRMAISEGGL
LTDEIRRKVWPKLLNVNANDPPPISGKNLRQMSKDYQQVLLDVRRSLRRFPPGMPEEQRE
GLQEELIDIILLILERNPQLHYYQGYHDIVVTFLLVVGERLATSLVEKLSTHHLRDFMDP
TMDNTKHILNYLMPIIDQVNPELHDFMQSAEVGTIFALSWLITWFGHVLSDFRHVVRLYD
FFLACHPLMPIYFAAVIVLYREQEVL
DCDCDMASVHHLLSQIPQDLPYETLISRAGDLFV
QFPPSELAREAAAQQQAERTAASTFKDFELASAQQRPDMVLRQRFRGLLRPEDRTKDVLT
KPRTNRFVKLAVMGLTVALGAAALAVVKSALEWAPKFQLQLFP
Sequence length 403
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    COPII-mediated vesicle transport
TBC/RABGAPs
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Cataract Cataract rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322
View all (150 more)
Cryptorchidism Cryptorchidism rs121912555, rs104894697, rs104894698, rs398122886
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
26063829
Glaucoma Glaucoma rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328
View all (29 more)
Unknown
Disease term Disease name Evidence References Source
Ptosis Blepharoptosis, Ptosis ClinVar
Warburg Micro Syndrome Warburg micro syndrome GenCC
Associations from Text Mining
Disease Name Relationship Type References
Ataxia Associate 34130600
Brain Diseases Associate 34130600
Chediak Higashi Syndrome Associate 34130600
Congenital Hereditary and Neonatal Diseases and Abnormalities Associate 34130600
Frontotemporal Dementia Associate 34130600
Gaucher Disease Associate 34130600
Gerstmann Straussler Scheinker Disease Associate 34130600
Glycogen Storage Disease Associate 34130600
Huntington Disease Associate 34130600
Intellectual Disability Associate 25332050